Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL1A
Variant:p.S804N
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OSBPL1A

NM_080597.4:p.S804N

Associated Papers

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

Burkhalter MD et al.

The Journal of Clinical Investigation, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."